Varaico: Literature-Extracted Genetic Variants

Gene:APH1A
Variant:p.W174R

APH1A

69 papers

RefSeq Summary

This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains th...

Pfam Domains

Aph-1aa 4–235UCSCAph-1 protein

Gene Aliases

HGNC Name

aph-1A gamma-secretase subunit

HGNC Alias Symbols

APH-1A; CGI-78

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001077628.3
p.W174R
c.520T>A
Surrounding Variants
1 paper
NM_001077628.3
p.W174R
c.520T>C
1 paper
NM_001077628.3
p.H171L
c.512A>T
1 paper
NM_001077628.3
p.A166D
c.497C>A
1 paper
NM_001077628.3
p.T164A
c.490A>G
1 paper
NM_001077628.3
p.L163delFs
c.487delG
1 paper
NM_001077628.3
p.G191A
c.572G>C
1 paper
NM_001077628.3
p.G195V
c.584G>T
1 paper
NM_001077628.3
p.H197L
c.590A>T
1 paper
NM_001077628.3
p.S201L
c.602C>T
1 paper
NM_001077628.3
p.G202G
c.606A>C
1 paper
NM_001077628.3
p.D152insFs
c.454dupG
1 paper
NM_001077628.3
p.L142H
c.425T>A
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